Associated Papers
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
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An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille A et al.
Clinical Neurology and Neurosurgery, 2018
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M et al.
European Journal of Human Genetics : Ejhg, 2017
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis.
Huang X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM et al.
Brain : a Journal of Neurology, 2015
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Martinez-Carrera LA et al.
Frontiers in Neuroscience, 2015
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC et al.
American Journal of Human Genetics, 2013
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